Fig. 2: L-carnitine rescues nutritional deficits in C. elegans gbh-1 mutants.
From: Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine
A Hatch rate analysis on thin versus thick E. coli OP50 lawns shows semi-lethality in gbh-1(ko), G247Vfs*6, and G283R mutants, but not D72G, under standard conditions. Enhanced survival on thick OP50 lawns suggests semi-lethality is mitigated by improved nutritional availability; B Starvation–refeeding experiments conducted on thin OP50 plates reveal consistent F1 embryonic lethality in gbh-1(ko), G247Vfs*6, and G283R strains. When refeeding occurs with the HB101 E. coli strain, known for dense lawn formation, lethality is rescued. Supplementing OP50 with 1mM L-carnitine also recues lethality of these strains on OP50; C In a similar starvation–refeeding experiments to (B), F1 embryonic lethality of gbh-1(ko), G247Vfs*6, and G283R strains is rescued by supplementation with 100 µM L-carnitine, or the use of the BW25113 bacterial strain, which also forms a dense lawn; D Starvation–refeeding experiments conducted on a BW25113(ΔcaiA) plates resulted in the F1 embryonic lethality phenotype for gbh-1(ko), G247Vfs*6, and G283R strains; E Without prior starvation, gbh-1(ko), G247Vfs*6, and G283R worms demonstrate consistent F1 embryonic lethality on BW25113(ΔcaiA) plates. The lethality is consistent across gbh-1 mutants except for D72G. A and C–E Statistical significance: ***p < 0.001 and ****p < 0.0001 (unpaired t-test). Bar graphs represent hatch rates under various conditions. Error bars represent the standard error of the mean.
